ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.108C>T (p.Val36=)

gnomAD frequency: 0.00193  dbSNP: rs3918011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500707 SCV000594234 likely benign not specified 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000958047 SCV001104872 benign Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001172212 SCV001335198 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CSF3R: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001172212 SCV001929486 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001172212 SCV001964586 likely benign not provided no assertion criteria provided clinical testing

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